Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome-Reference-Cited by-同舟云学术

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

Published:2005-03-16 Issue:5 Volume:13 Page:563-569
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Horn Denise,Chyrek Magdalena,Kleier Saskia,Lüttgen Sabine,Bolz Hanno,Hinkel Georg-Klaus,Korenke Georg Christoph,Rieß Angelika,Schell-Apacik Can,Tinschert Sigrid,Wieczorek Dagmar,Gillessen-Kaesbach Gabriele,Kutsche Kerstin

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201391.pdf

Reference18 articles.

1. Hedera P, Gorski JL : Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant inheritance. Am J Med Genet 2003; 123A: 261–266.

2. Schulze BR, Horn D, Kobelt A, Tariverdian G, Stellzig A : Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients. Am J Med Genet 1999; 82: 429–435.

3. Ng D, Thakker N, Corcoran CM et al: Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet 2004; 36: 411–416.

4. Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V : Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. Am J Med Genet 2001; 98: 92–100.

5. Ng D, Hadley DW, Tifft CJ, Biesecker LG : Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? Am J Med Genet 2002; 110: 308–314.

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